Disease: Generalized hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15